Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 234,627,282 papers from all fields of science
Search
Sign In
Create Free Account
20p13
A chromosome band present on 20p
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
10 relations
ATRN wt Allele
AVP wt Allele
CSNK2A1 wt Allele
Chromosome 20 Short Arm
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration
Yuan Cheng
,
Yu-tao Liu
,
Zhihua Yang
,
Jing Yang
,
Changhe Shi
,
Yuming Xu
International Journal of Neuroscience
2018
Corpus ID: 49640610
Abstract Aim: Pantothenate-kinase-associated neurodegeneration (PKAN), which is characterised by iron accumulation in the basal…
Expand
2014
2014
Down Syndrome Phenotype in a Child with Partial Trisomy of Chromosome 21 and Paternally Derived Translocation t (20p; 21q)
B. Anna
,
Jamsheer Aleks
,
+8 authors
ZajÄczek StanisÅaw
2014
Corpus ID: 72948946
We present a case of the partial trisomy of chromosome 21 encompassing Down Syndrome Critical Region (DSCR) accompanied by 20p13…
Expand
2014
2014
A New Complex Translocation t ( 8 ; 11 ; 21 ) ( q 22 ; q 24 ; q 22 ) in Acute Myeloid Leukemia with RUNX 1 / RUNX 1 T 1
Katsuya Yamamoto
,
K. Yakushijin
,
+4 authors
H. Minami
2014
Corpus ID: 29151499
The t(8;21)(q22;q22) translocation involving RUNX1 at 21q22 and RUNX1T1 at 8q22 is found in 10% of cases of acute myeloid…
Expand
Review
2014
Review
2014
Isolated hypermethylation of GRB 10 ( 7 p 12 . 2 ) in a Silver – Russell syndrome patient carrying a 20 p 13 microdeletion
2014
Corpus ID: 40833032
To the Editor : Silver–Russell syndrome (SRS; OMIM 180860) is an imprinting disorder characterized by primordial growth…
Expand
2011
2011
[Mapping genes of major recurrent depression in genetic isolates].
O. A. Bulaev
,
F. Gurgenova
,
U. M. Guseĭnova
,
K. Bulaeva
Zhurnal Nevrologii i Psikhiatrii imeni S.S…
2011
Corpus ID: 32094897
We conducted a genome-wide linkage scan in two extended pedigrees ascertained from two Dagestan genetic isolates (N(o)6007 and…
Expand
2008
2008
Is oxytocin a player in antidiuresis?
S. Sasaki
Journal of the American Society of Nephrology
2008
Corpus ID: 30822535
The nonpeptide hormone oxytocin does not receive much thought from the renal community compared with its colleague, vasopressin…
Expand
2005
2005
RELEASE Friday August 19 , 2005 Queensland scientists lead international study discovering Genes Behind Endometriosis
S. Treloar
,
J. Wicks
,
+14 authors
S. Kennedy
2005
Corpus ID: 115217272
A team of international scientists headed by The Queensland Institute of Medical Research (QIMR) has made a major genetic…
Expand
2001
2001
A new pedigree with recessive mapping to CHED2 locus on 20p13.
M. Mohamed
,
M. Mckibbin
,
H. Jafri
,
Y. Rasheed
,
C. Woods
,
C. Inglehearn
British Journal of Ophthalmology
2001
Corpus ID: 35574088
1998
1998
Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus.
B. Calvo
,
J. Bilbao
,
I. Urrutia
,
J. Eizaguirre
,
S. Gaztambide
,
Luis Castaño
Journal of Clinical Endocrinology and Metabolism
1998
Corpus ID: 37881677
Familial neurohypophyseal diabetes insipidus (FNDI) is an autosomal dominant disease caused by deficiency in the antidiuretic…
Expand
1985
1985
Monosomy 20p due to a de novo del(20)(p12.2). Clinical and radiological delineation of the syndrome.
D. García-Cruz
,
H. Rivera
,
+6 authors
J. Cantú
Annales de Genetique
1985
Corpus ID: 37103954
A 16 year-old boy with monosomy 20p was studied. The clinical and radiological data compared with those from the three previously…
Expand